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index medicus (38) 38
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immunology (29) 29
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adult (8) 8
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mutations (7) 7
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diagnosis (6) 6
health aspects (6) 6
immunologic deficiency syndromes - immunology (6) 6
internal medicine (6) 6
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phenotype (6) 6
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trec (6) 6
adolescent (5) 5
chemistry (5) 5
disease (5) 5
flow cytometry (5) 5
gene expression (5) 5
genetic aspects (5) 5
hematology (5) 5
hypogammaglobulinemia (5) 5
immunologic deficiency syndromes - genetics (5) 5
lymphopenia (5) 5
metallurgy (5) 5
pediatrik (5) 5
primary immunodeficiency diseases (5) 5
risk factors (5) 5
severe combined immunodeficiency - genetics (5) 5
t-cells (5) 5
adenosine-deaminase deficiency (4) 4
asthma (4) 4
biomedicine (4) 4
deficiency (4) 4
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dna methylation (4) 4
expression (4) 4
genotype & phenotype (4) 4
human necessities (4) 4
hygiene (4) 4
immune system (4) 4
immunological deficiency syndromes (4) 4
infections (4) 4
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lymphocytes b (4) 4
lymphocytes t (4) 4
medical microbiology (4) 4
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organic chemistry (4) 4
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peptides (4) 4
preparations for medical, dental, or toilet purposes (4) 4
retrospective studies (4) 4
severe combined immunodeficiency - immunology (4) 4
transplantation (4) 4
x-linked agammaglobulinemia (4) 4
agammaglobulinemia (3) 3
age (3) 3
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case-control studies (3) 3
cd8-positive t-lymphocytes - immunology (3) 3
common variable immunodeficiency - genetics (3) 3
common variable immunodeficiency - immunology (3) 3
defects (3) 3
early diagnosis (3) 3
exposure (3) 3
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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2013, Volume 369, Issue 26, pp. 2504 - 2514
Journal Article
by El-Helou, SM and Biegner, AK and Bode, S and Ehl, SR and Heeg, M and Maccari, ME and Ritterbusch, H and Speckmann, C and Rusch, S and Scheible, R and Warnatz, K and Atschekzei, F and Beider, R and Ernst, D and Gerschmann, S and Jablonka, A and Mielke, G and Schmidt, RE and Schurmann, G and Sogkas, G and Baumann, UH and Klemann, C and Viemann, D and von Bernuth, H and Kruger, R and Hanitsch, LG and Scheibenbogen, CM and Wittke, K and Albert, MH and Eichinger, A and Hauck, F and Klein, C and Rack-Hoch, A and Sollinger, FM and Avila, A and Borte, M and Borte, S and Fasshauer, M and Hauenherm, A and Kellner, N and Muller, AH and Ulzen, A and Bader, P and Bakhtiar, S and Lee, JY and Hess, U and Schubert, R and Wolke, S and Zielen, S and Ghosh, S and Laws, HJ and Neubert, J and Oommen, PT and Honig, M and Schulz, A and Steinmann, S and Schwarz, K and Duckers, G and Lamers, B and Langemeyer, V and Niehues, T and Shai, S and Graf, D and Muglich, C and Schmalzing, MT and Schwaneck, EC and Tony, HP and Dirks, J and Haase, G and Liese, JG and Morbach, H and Foell, D and Hellige, A and Wittkowski, H and Masjosthusmann, K and Mohr, M and Geberzahn, L and Hedrich, CM and Muller, C and Rosen-Wolff, A and Roesler, J and Zimmermann, A and Behrends, U and Rieber, N and Schauer, U and Handgretinger, R and Holzer, U and Henes, J and Kanz, L and Boesecke, C and Rockstroh, JK and Schwarze-Zander, C and Wasmuth, JC and Dilloo, D and Hulsmann, B and Schonberger, S and Schreiber, S and Zeuner, R and Ankermann, T and von Bismarck, P and ...
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1272
Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in... 
CVID | AFRICA | IgG substitution therapy | PID prevalence | European Society for Immunodeficiencies (ESID) | DISORDERS | IMMUNOLOGY | registry for primary immunodeficiency | primary immunodeficiency (PID) | KUWAIT | German PID-NET registry | Usage | Transplantation | Diagnosis | Risk factors | Hematopoietic stem cells | Immunodeficiency
Journal Article
Cytometry Part B: Clinical Cytometry, ISSN 1552-4949, 05/2014, Volume 86, Issue 3, pp. 191 - 206
Background The heterogeneity of primary and secondary immunodeficiencies demands for the development of a comprehensive flow cytometric screening system, based... 
immunodeficiencies | reference values | lymphocytes | NK‐cell | T‐cell | flow cytometry | B‐cell | T-cell | B-cell | NK-cell | DIGEORGE-SYNDROME | RECENT THYMIC EMIGRANTS | SUBSETS | COMMON VARIABLE IMMUNODEFICIENCY | 22Q11.2 DELETION SYNDROME | PATHOLOGY | DEFICIENCY | HYPER-IGE SYNDROME | MEMORY | FLOW-CYTOMETRY | MEDICAL LABORATORY TECHNOLOGY | TH17 CELLS | Chemical properties | T cells | Analysis | Immunodeficiency
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 703 - 712.e10
Background The clinical and immunologic features of CD27 deficiency remain obscure because only a few patients have been identified to date. Objective We... 
Allergy and Immunology | CD27 deficiency | hemophagocytic lymphohistiocytosis | hypogammaglobulinemia | EBV-induced lymphoproliferation | Hodgkin lymphoma | NATURAL-KILLER-CELLS | READ ALIGNMENT | EBV INFECTION | SCID MICE | COMMON VARIABLE IMMUNODEFICIENCY | Journal Article | NK CELLS | Research Support, Non-U.S. Gov't | LYMPHOPROLIFERATIVE DISORDER | CD27-CD70 INTERACTIONS | EPSTEIN-BARR-VIRUS | T-CELLS | IMMUNOLOGY | ALLERGY | Lymphohistiocytosis, Hemophagocytic - pathology | Hodgkin Disease - genetics | Hodgkin Disease - pathology | Humans | Child, Preschool | Infant | Male | Lymphoproliferative Disorders - immunology | Exome | Young Adult | Flow Cytometry | Epstein-Barr Virus Infections - genetics | Female | Lymphohistiocytosis, Hemophagocytic - genetics | Lymphohistiocytosis, Hemophagocytic - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - immunology | Uveitis - diagnosis | Epstein-Barr Virus Infections - immunology | Hodgkin Disease - diagnosis | Lymphohistiocytosis, Hemophagocytic - diagnosis | Immunophenotyping | Lymphoproliferative Disorders - genetics | Tumor Necrosis Factor Receptor Superfamily, Member 7 - genetics | Lymphoproliferative Disorders - pathology | Epstein-Barr Virus Infections - pathology | Homozygote | Lymphoproliferative Disorders - diagnosis | Uveitis - immunology | Adolescent | Epstein-Barr Virus Infections - diagnosis | Heterozygote | Hodgkin Disease - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - deficiency | Mutation | Uveitis - genetics | Uveitis - pathology | Genetic research | Medical colleges | Genetic aspects | Children | Health aspects | Immunodeficiency | Proteins | Human subjects | Antigens | Lymphocytes | Quality | Families & family life | Cytotoxicity | T cell receptors | Genomes | Kinases | Deoxyribonucleic acid--DNA
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2017, Volume 37, Issue 1, pp. 51 - 60
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2017, Volume 214, Issue 1, pp. 91 - 106
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 155 - 159.e3
Background Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect... 
Allergy and Immunology | Purine nucleoside phosphorylase | tandem mass spectrometry | delayed-onset | inherited disorder | purine nucleoside phosphorylase–combined immunodeficiency | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | purine nucleoside phosphorylase-combined immunodeficiency | IMMUNOLOGY | ALLERGY | PATIENT | MUTATIONS | ADENOSINE-DEAMINASE DEFICIENCY | Immunologic Deficiency Syndromes - pathology | Dried Blood Spot Testing | Humans | Child, Preschool | Infant | Male | Deoxyguanosine - analysis | Neonatal Screening | Purine-Nucleoside Phosphorylase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Tandem Mass Spectrometry | Purine-Nucleoside Phosphorylase - deficiency | Inosine - analogs & derivatives | Female | Immunologic Deficiency Syndromes - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - pathology | Infant, Newborn | Guanosine - analysis | Inosine - analysis | Inosine - metabolism | Guanosine - metabolism | Lymphocytes - pathology | DNA Repair | Adolescent | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Immunologic Deficiency Syndromes - genetics | Deoxyguanosine - metabolism | Mutation | Enzymes | Alkaloids | Neurosciences | Immunodeficiency | Nucleosides | Diagnosis | Children | Health aspects | Mass spectrometry | Genotype & phenotype | Metabolites | Disease | Newborn babies | Mortality | Infections | Medical screening | Patients | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1282 - 1287
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing,... 
PRIMORDIAL DWARFISM | GENETIC-VARIATION | GENOME REPLICATION | MICROMELIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Dwarfism | Phenotypes | Microencephaly | Anemia | Limb malformations | Fanconi syndrome | Siblings
Journal Article